Abstract
3/2024
vol. 75
Original paper
The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey
- Department of Medical Genetic, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
- Department of Surgical Oncology, Ankara Dr Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey
- Department of Family Medicine, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
- Department of Pathology, Ankara Etlik City Hospital, Ankara, Turkey
- Department of Statistics, Kırıkkale University, Faculty of Science and Letters, Ankara, Turkey
- Department of General Surgery, Ankara A Life Hospital, Ankara, Turkey
Pol J Pathol 2024; 75 (3): 192-204
Online publish date: 2024/09/05
The 5–10% of breast cancers (BC) are hereditary, and BRCA1/2 are causative in 25% of those inherited. It was aimed to examine the BRCA1/2 genotype-BC phenotype relationship.
In 170 female patients with BC, BRCA1/2 genes were investigated using Next Generation Sequencing. Demographic and clinicopathological characteristics of the patients and correlations of pedigree analysis with BRCA1/2 mutation status were analysed.
BRCA1/2 carriage was found to be 9.4%. When the patients were grouped as ≤ 40 and > 40 according to the age at diagnosis of BC, the tumour grade was higher in the ≤ 40 groups. In the study, BRCA1/2 carriage and tumour grade were higher in patients with triple-negative breast cancers (TNBC). The risk of TNBC was 5.560 times higher in BRCA1/2 carriers than in non-carriers.
There is a significant relationship between BRCA1/2 carrier and BC hormone receptor negativity, tumour grade, and BC diagnosis age.
In 170 female patients with BC, BRCA1/2 genes were investigated using Next Generation Sequencing. Demographic and clinicopathological characteristics of the patients and correlations of pedigree analysis with BRCA1/2 mutation status were analysed.
BRCA1/2 carriage was found to be 9.4%. When the patients were grouped as ≤ 40 and > 40 according to the age at diagnosis of BC, the tumour grade was higher in the ≤ 40 groups. In the study, BRCA1/2 carriage and tumour grade were higher in patients with triple-negative breast cancers (TNBC). The risk of TNBC was 5.560 times higher in BRCA1/2 carriers than in non-carriers.
There is a significant relationship between BRCA1/2 carrier and BC hormone receptor negativity, tumour grade, and BC diagnosis age.
Keywords
breast cancer, triple-negative, progesterone receptor, oestrogen receptor, BRCA1, BRCA2
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